title: Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain.
abstract: Mutations in FBXO7 (PARK15) have been associated with a syndrome characterized by early-onset progressive parkinsonism with and without pyramidal tract signs. Therefore, our aim was to analyze this gene in a population from southern Spain (338 Parkinson's disease [PD] patients and 330 unrelated control subjects) to elucidate the potential involvement of FBXO7 in PD pathogenesis. We identified 17 variants (11 novel), including 10 missense substitutions, 3 synonymous, and 4 intronic alterations. Six substitutions were described as putatively damaging by the bioinformatics tools and 1 intronic variation was described to affect splicing. Minor allele frequencies of the highly polymorphic coding single nucleotide polymorphisms (SNPs) in PD patients and control subjects were similar. All rare variants were heterozygous. No deletions or duplications involving FBXO7 exons were identified. Our results suggest that the involvement of the FBXO7 gene in PD is very rare, at least in this population from southern Spain.
authors.affiliation: Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
authors.forename: Pilar
authors.initials: P
authors.lastname: Gómez-Garre
authors.forename: Silvia
authors.initials: S
authors.lastname: Jesús
authors.forename: Fátima
authors.initials: F
authors.lastname: Carrillo
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Cáceres-Redondo
authors.forename: Ismael
authors.initials: I
authors.lastname: Huertas-Fernández
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Bernal-Bernal
authors.forename: Marta
authors.initials: M
authors.lastname: Bonilla-Toribio
authors.forename: Laura
authors.initials: L
authors.lastname: Vargas-González
authors.forename: Manuel
authors.initials: M
authors.lastname: Carballo
authors.forename: Pablo
authors.initials: P
authors.lastname: Mir
mesh_terms: D017668:Age of Onset; D004252:DNA Mutational Analysis / Q000379:methods; D044783:F-Box Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D013030:Spain / Q000453:epidemiology
chemical_list: D044783:F-Box Proteins; C489149:FBXO7 protein, human
keywords: Early-onset; FBXO7; Mutational analysis; Parkinson's disease; Parkinsonism; Pyramidal signs; Variants